Winchester syndrome

Winchester syndrome is thought to be a rare form of the mucopolysaccharidoses, a group of inherited metabolic dis¬ orders that are caused by a deficiency of specific lysosomal enzymes. These enzymes are needed to break down the long chains of sugar molecules (mucopolysaccharides) used to build connective tissues and organs in the body. As with mucopolysaccharidoses, some individuals with Winchester syndrome often lose oligosaccharide (a type of simple sugar) in the urine; this symptom assists in the diagnosis of this disorder. Winchester syndrome is characterized by short stature and arthritis-like symptoms. Vision and skin disorders are often associated with this syndrome.


 


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